Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1), which is caused by heterozygous inactivating pathogenic variants in the NF1, has poor phenotypic expressivity in the early years of life and there are numerous conditions, including many other tumor predisposition syndromes, that can mimic its appearance. These are collectively termed NF1-like syndromes and are also connected by their genetic background. Therefore, the NF1's clinical diagnostic efficiency in childhood could be difficult and commonly should be completed with genetic testing.

Methods

To estimate the number of syndromes/conditions that could mimic NF1, we compiled them through an extensive search of the scientific literature. To test the utility of NF1's National Institutes of Health (NIH) clinical diagnostic criteria,

SUBMITTER: Pinti E 

PROVIDER: S-EPMC8320045 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature